ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198591
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0
Score
0.0418626848
Score
0.0332
Score
0.0345
Score
0.1181
Score
0.1375
Score
0.0547
Score
0.0201
Linked Data - NCBI & NCI
ClinVar Allele:
185786
ClinVar RCV:
RCV000167597
ClinVar Variation:
187877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Gly196Asp
CA198589
NM_005957.5:c.587G>A